Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Disease and PYGM[original query] |
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| Genotype modulators of clinical severity in McArdle disease. Neuroscience letters 2007 Jul 422 (3): 217-22. Rubio Juan C, Gómez-Gallego Félix, Santiago Catalina, García-Consuegra Inés, Pérez Margarita, Barriopedro María I, Andreu Antoni L, Martín Miguel A, Arenas Joaquín, Lucia Alejand |
| Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Mar . De Castro Mauricio, Johnston Jennifer, Biesecker Lesl |
| Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome. Genetics and molecular research : GMR 2016 15 (3): . Maltese P E, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina S Y, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso |
| Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease. Neuromuscular disorders : NMD 2017 10 27 (11): 997-1008. Inal-Gültekin Güldal, Topta?-Hekimo?lu Bahar, Görmez Zeliha, Geli?in Özlem, Durmu? Hacer, Ergüner Bekir, Demirci Hüseyin, Sa??ro?lu Mahmut ?, Parman Ye?im, Deymeer Feza, Y?lmaz-Aydo?an Hülya, Pençe Sadrettin, Bekircan-Kurt Can Ebru, Tan Ersin, Erdem-Özdamar Sevim, Üstek Duran, Giger Urs, Öztürk O?uz, Serdaro?lu-Oflazer Pira |
| Missense mutations have unexpected consequences: The McArdle disease paradigm. Human mutation 2018 7 39 (10): 1338-1343. García-Consuegra Inés, Asensio-Peña Sara, Ballester-Lopez Alfonsina, Francisco-Velilla Rosario, Pinos Tomás, Pintos-Morell Guillem, Coll-Cantí Jaume, González-Quintana Adrián, Andreu Antoni L, Arenas Joaquín, Lucia Alejandro, Nogales-Gadea Gisela, Martín Miguel |
| Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease. Acta neurologica Belgica 2018 11 120 (2): 303-311. Lorenzoni Paulo José, Werneck Lineu Cesar, Kay Cláudia Suemi Kamoi, Arndt Raquel Cristina, Silvado Carlos E S, Scola Rosana Hermin |
| PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. PloS one 2020 15 (7): e0236597. Carvalho Alzira A S, Christofolini Denise M, Perez Matheus M, Alves Beatriz C A, Rodart Itatiana, Figueiredo Francisco W S, Turke Karine C, Feder David, Junior Marcondes C F, Nucci Ana M, Fonseca Fernando L |
| Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study. Journal of inherited metabolic disease 2021 9 44 (6): 1409-1418. Pizzamiglio Chiara, Mahroo Omar A, Khan Kamron N, Patasin Maria, Quinlivan Rosali |
| The phenotypic and genotypic features of a Scottish cohort with McArdle disease. Neuromuscular disorders : NMD 2021 7 31 (8): 695-700. Gandhi Sacha E, Longman Cheryl, Petty Richard K H, Brennan Kathryn M, Stewart Willie, Kinch Kevin, Töpf Ana, Straub Volker, Quinlivan Rosaline, Farrugia Maria Ele |
| Genetic Variants of Glycogen Metabolism Genes Were Associated With Liver PDFF Without Increasing NAFLD Risk. Frontiers in genetics 2022 4 13 830445. Yang Liu, Sun Zewen, Li Jiuling, Pan Xingchen, Wen Jianping, Yang Jianli, Wang Qing, Chen Pe |
| Whole-exome sequencing detects PYGM variants in two adults with McArdle disease. Cold Spring Harbor molecular case studies 2022 1 8 (2): . Thomas-Wilson Amanda, Dharmadhikari Avinash V, Heymann Jonas J, Jobanputra Vaidehi, DiMauro Salvatore, Hirano Michio, Naini Ali B, Ganapathi Mythi |
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